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Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis.

http://www.ncbi.nlm.nih.gov/pubmed/8622955

The CBFA2 (AML1) gene encodes a DNA-binding subunit of the heterodimeric core-binding factor. The CBFA2 gene is disrupted by the (8;21), (3;21), and (12;21) chromosomal translocations associated with leukemias and myelodysplasias in humans. Mice lacking a CBF alpha 2 protein capable of binding DNA die between embryonic days 11.5 and 12.5 due to hemorrhaging in the central nervous system (CNS), at the nerve/CNS interfaces of cranial and spinal nerves, and in somitic/intersomitic regions along the presumptive spinal cord. Hemorrhaging is preceded by symmetric, bilateral necrosis in these regions. Definitive erythropoiesis and myelopoiesis do not occur in Cbfa2-deficient embryos, and disruption of one copy of the Cbfa2 gene significantly reduces the number of progenitors for erythroid and myeloid cells.

Pubmed ID: 8622955 RIS Download

Mesh terms: Animals | Base Sequence | Central Nervous System Diseases | Core Binding Factor Alpha 2 Subunit | DNA Primers | DNA, Complementary | DNA-Binding Proteins | Erythropoiesis | Female | Fetal Death | Gene Targeting | Hematopoiesis | Hemorrhage | Humans | Mice | Mice, Inbred BALB C | Mice, Inbred C57BL | Molecular Sequence Data | Mutation | Necrosis | Neoplasm Proteins | Pregnancy | Proto-Oncogene Proteins | Proto-Oncogenes | Transcription Factors

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Associated grants

  • Agency: NCI NIH HHS, Id: CA58343
  • Agency: NIAMS NIH HHS, Id: IPO30AR42689
  • Agency: NINDS NIH HHS, Id: NS-22897

Mouse Genome Informatics (Data, Gene Annotation)

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